A 24-year-old woman presents with a one-year history of multiple asymptomatic firm skin-coloured-to-yellow papules around…
Read more
2 minutes to read
Tom, a 43-year-old architect of Caucasian descent, presents with a six-month history of polyarthralgia and tiredness, which…
Read more
5 minutes to read
Familial hypercholesterolaemia (FH) is the most common form of inherited hyperlipidaemia, resulting in accelerated onset of…
Read more
Sally is a 25-year-old primigravida who is referred for further assessment of a fetal central brain cyst identified at…
Read more
Scientists have revealed the detailed genetic make-up of thousands of cancer samples, yielding new insights into the genes…
Read more
Many patients planning to undergo genome sequencing to learn about the genetic variants that may have predisposed them to…
Read more
When a 12-year-old Amish girl suddenly dropped dead while playing, it was the start of a spate of child deaths that stumped…
Read more